Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?

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Paulino, Talita Lemos [UNIFESP]
Rafael, Marina Neto [UNIFESP]
Hix, Sonia
Shigueoka, David Carlos [UNIFESP]
Ajzen, Sergio Aron [UNIFESP]
Kochi, Cristiane
Suano-Souza, Fabiola Isabel [UNIFESP]
da Silva, Rosangela
Costa-Carvalho, Beatriz T. [UNIFESP]
Sarni, Roseli O. S. [UNIFESP]
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Background: Ataxia telangiectasia (A-T) is a neurodegenerative disease that leads to mitochondrial dysfunction and oxidative stress. Insulin resistance (IR), type 2 diabetes and the risk for development of cardiovascular disease was recently associated as an extended phenotype of the disease. We aimed to assess IR
liver involvement
carotid intima-media thickness (cIMT) and metabolic alterations associated to cardiovascular risk in A-T patients, and relate them with age. Results: Glucose metabolism alterations were found in 54.6% of the patients. Hepatic steatosis was diagnosed in 11/17 (64.7%) A-T patients. AST/ALT ratio > 1 was observed in 10/17 (58.8%). A strong positive correlation was observed between insulin sum concentrations with ALT (r = 0.782, p < 0.004) and age (r = 0.818, p = 0.002). Dyslipidemia was observed in 55.5% of the patients. The apolipoprotein (Apo-B)/ApoA-I ratio (r = 0.619
p < 0.01), LDL/HDL-c (r = 0.490
p < 0.05) and the Apo-B levels (r = 0.545
p < 0.05) were positively correlated to cIMT. Conclusions: Metabolic disorders implicated in cardiovascular and liver diseases are frequently observed in adolescent A-T patients and those tend to get worse as they become older. Therefore, nutritional intervention and the use of drugs may be necessary.
Orphanet Journal Of Rare Diseases. London, v. 12, p. -, 2017.